Incidental Mutation 'R7915:Prex1'
ID 647992
Institutional Source Beutler Lab
Gene Symbol Prex1
Ensembl Gene ENSMUSG00000039621
Gene Name phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
Synonyms P-REX1
MMRRC Submission 045963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R7915 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 166408265-166555752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166463112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 250 (S250P)
Ref Sequence ENSEMBL: ENSMUSP00000037180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080]
AlphaFold Q69ZK0
Predicted Effect probably damaging
Transcript: ENSMUST00000036719
AA Change: S250P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037180
Gene: ENSMUSG00000039621
AA Change: S250P

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
RhoGEF 48 234 3.16e-52 SMART
PH 267 389 1.02e-10 SMART
DEP 418 491 6.86e-27 SMART
DEP 519 592 3.06e-24 SMART
PDZ 628 701 4.55e-1 SMART
PDZ 712 783 5.66e-1 SMART
low complexity region 800 811 N/A INTRINSIC
low complexity region 814 825 N/A INTRINSIC
low complexity region 1109 1127 N/A INTRINSIC
low complexity region 1545 1555 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099080
AA Change: S80P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096679
Gene: ENSMUSG00000039621
AA Change: S80P

DomainStartEndE-ValueType
Pfam:RhoGEF 5 64 3.8e-18 PFAM
PH 97 219 1.02e-10 SMART
DEP 248 321 6.86e-27 SMART
DEP 349 422 3.06e-24 SMART
PDZ 458 531 4.55e-1 SMART
PDZ 542 613 5.66e-1 SMART
low complexity region 630 641 N/A INTRINSIC
low complexity region 644 655 N/A INTRINSIC
low complexity region 939 957 N/A INTRINSIC
low complexity region 1375 1385 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have impaired neutrophil migration and autism-like social behavior with defective AMPA-mediated LTD. Mice with other alleles exhibit reduced weight, smaller livers and increased peripheral neutrophil numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T G 17: 24,484,507 (GRCm39) H1585P probably damaging Het
Acaca A T 11: 84,167,414 (GRCm39) T1063S probably benign Het
Actc1 T A 2: 113,880,967 (GRCm39) K86M probably damaging Het
Amz1 A G 5: 140,727,190 (GRCm39) N51S probably benign Het
Arhgap33 G A 7: 30,222,648 (GRCm39) P1095S probably benign Het
Bicra T C 7: 15,722,447 (GRCm39) T357A probably benign Het
C130032M10Rik A G 9: 114,345,123 (GRCm39) R120G unknown Het
Cadps A G 14: 12,705,544 (GRCm38) F284L possibly damaging Het
Ccdc83 G A 7: 89,893,290 (GRCm39) Q156* probably null Het
Cdh20 T A 1: 104,861,898 (GRCm39) M26K probably benign Het
Cdh23 A G 10: 60,143,668 (GRCm39) L2979P probably damaging Het
Cdhr17 A G 5: 17,032,012 (GRCm39) N556D probably benign Het
Crocc2 T C 1: 93,141,363 (GRCm39) L1172P probably damaging Het
Cyp2d10 C T 15: 82,288,628 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,479,621 (GRCm39) probably benign Het
Dgcr2 A G 16: 17,677,266 (GRCm39) probably null Het
Dio3 A G 12: 110,246,473 (GRCm39) M270V Het
Dll1 C A 17: 15,588,690 (GRCm39) D662Y probably damaging Het
Drd1 G T 13: 54,207,834 (GRCm39) P127T probably damaging Het
Evc2 T C 5: 37,544,206 (GRCm39) S652P probably damaging Het
Fam149a C A 8: 45,794,280 (GRCm39) M708I probably benign Het
Fam89a T C 8: 125,467,895 (GRCm39) E139G probably damaging Het
Gpr141 T C 13: 19,936,729 (GRCm39) I15M probably benign Het
Hcn4 G A 9: 58,731,218 (GRCm39) E142K unknown Het
Hivep3 T A 4: 119,954,962 (GRCm39) S1093T possibly damaging Het
Inpp5f C A 7: 128,269,433 (GRCm39) T261K probably benign Het
Ints3 A T 3: 90,340,132 (GRCm39) D42E probably benign Het
Krt90 A T 15: 101,466,838 (GRCm39) probably null Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lrig1 C A 6: 94,607,082 (GRCm39) probably null Het
Mapk14 A G 17: 28,947,928 (GRCm39) T221A probably benign Het
Megf10 A T 18: 57,373,807 (GRCm39) T202S probably benign Het
Neo1 A T 9: 58,838,264 (GRCm39) F507I probably benign Het
Or7a35 A G 10: 78,853,264 (GRCm39) Y36C probably damaging Het
Or8b48 A T 9: 38,492,969 (GRCm39) Y132F probably damaging Het
Or8k37 T A 2: 86,469,110 (GRCm39) *314L probably null Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pkd1 T A 17: 24,811,630 (GRCm39) Y3724* probably null Het
Plxnd1 T C 6: 115,943,879 (GRCm39) D1140G probably benign Het
Pramel22 T C 4: 143,382,315 (GRCm39) K127R possibly damaging Het
Prom1 A T 5: 44,162,277 (GRCm39) M777K possibly damaging Het
Prrc2c A C 1: 162,519,977 (GRCm39) S2125A probably benign Het
Ptpn12 A G 5: 21,214,449 (GRCm39) I229T probably damaging Het
Ranbp6 A G 19: 29,790,073 (GRCm39) V93A probably benign Het
Rtn3 A G 19: 7,434,865 (GRCm39) C376R probably benign Het
Sis A C 3: 72,828,471 (GRCm39) H1201Q probably damaging Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Slc3a2 G A 19: 8,685,182 (GRCm39) R535W probably damaging Het
Slc5a2 T A 7: 127,864,966 (GRCm39) L33Q probably damaging Het
Sltm G T 9: 70,494,431 (GRCm39) R927L probably damaging Het
Spaca7b T C 8: 11,728,645 (GRCm39) T9A possibly damaging Het
Stat1 A G 1: 52,190,440 (GRCm39) D565G probably benign Het
Terb1 T C 8: 105,173,848 (GRCm39) K745R possibly damaging Het
Tescl T C 7: 24,033,113 (GRCm39) I71V probably damaging Het
Tgm1 T C 14: 55,937,883 (GRCm39) D742G probably damaging Het
Tmem128 T A 5: 38,423,875 (GRCm39) W30R probably benign Het
Tox T A 4: 6,822,949 (GRCm39) M123L probably benign Het
Tsnaxip1 A G 8: 106,569,413 (GRCm39) S547G possibly damaging Het
Ttn T A 2: 76,567,539 (GRCm39) K27785* probably null Het
Tut7 T C 13: 59,932,628 (GRCm39) I1345V probably benign Het
Usp38 A C 8: 81,727,712 (GRCm39) S340R probably damaging Het
Utrn A T 10: 12,340,956 (GRCm39) H2840Q probably damaging Het
Vars2 T C 17: 35,975,731 (GRCm39) I229V probably damaging Het
Vmn1r16 A T 6: 57,300,380 (GRCm39) Y81N probably damaging Het
Vmn2r98 A T 17: 19,287,493 (GRCm39) D442V probably benign Het
Vps13d T C 4: 144,813,389 (GRCm39) I3296V Het
Wwtr1 A G 3: 57,483,020 (GRCm39) probably null Het
Other mutations in Prex1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Prex1 APN 2 166,480,321 (GRCm39) missense probably damaging 1.00
IGL00309:Prex1 APN 2 166,451,743 (GRCm39) missense probably damaging 0.99
IGL00953:Prex1 APN 2 166,480,329 (GRCm39) missense probably damaging 1.00
IGL00961:Prex1 APN 2 166,427,656 (GRCm39) missense probably damaging 0.98
IGL01300:Prex1 APN 2 166,480,327 (GRCm39) missense possibly damaging 0.46
IGL01318:Prex1 APN 2 166,411,260 (GRCm39) splice site probably benign
IGL01753:Prex1 APN 2 166,444,802 (GRCm39) missense probably benign 0.11
IGL01819:Prex1 APN 2 166,463,165 (GRCm39) missense probably damaging 1.00
IGL02058:Prex1 APN 2 166,427,103 (GRCm39) missense probably benign 0.00
IGL02251:Prex1 APN 2 166,419,806 (GRCm39) missense probably damaging 0.99
IGL02326:Prex1 APN 2 166,463,105 (GRCm39) missense probably benign 0.35
IGL02366:Prex1 APN 2 166,422,347 (GRCm39) missense probably damaging 1.00
IGL02414:Prex1 APN 2 166,451,748 (GRCm39) missense probably damaging 1.00
IGL02660:Prex1 APN 2 166,435,787 (GRCm39) missense probably damaging 0.97
IGL02666:Prex1 APN 2 166,414,909 (GRCm39) missense probably benign 0.00
IGL02874:Prex1 APN 2 166,426,967 (GRCm39) missense probably damaging 1.00
IGL02935:Prex1 APN 2 166,412,265 (GRCm39) missense probably damaging 1.00
IGL03179:Prex1 APN 2 166,427,114 (GRCm39) missense probably benign 0.31
R0207:Prex1 UTSW 2 166,427,818 (GRCm39) missense possibly damaging 0.92
R0415:Prex1 UTSW 2 166,428,619 (GRCm39) unclassified probably benign
R0420:Prex1 UTSW 2 166,431,491 (GRCm39) missense probably benign 0.13
R0449:Prex1 UTSW 2 166,411,297 (GRCm39) missense probably benign 0.16
R0458:Prex1 UTSW 2 166,427,743 (GRCm39) missense probably damaging 0.99
R0927:Prex1 UTSW 2 166,428,457 (GRCm39) missense probably benign 0.01
R1299:Prex1 UTSW 2 166,427,827 (GRCm39) missense possibly damaging 0.62
R1414:Prex1 UTSW 2 166,435,781 (GRCm39) missense probably damaging 1.00
R1440:Prex1 UTSW 2 166,422,383 (GRCm39) missense probably damaging 0.98
R1506:Prex1 UTSW 2 166,429,001 (GRCm39) missense probably damaging 1.00
R1725:Prex1 UTSW 2 166,443,656 (GRCm39) missense probably damaging 1.00
R1831:Prex1 UTSW 2 166,427,021 (GRCm39) missense probably damaging 1.00
R1883:Prex1 UTSW 2 166,425,192 (GRCm39) missense probably benign 0.20
R1896:Prex1 UTSW 2 166,428,574 (GRCm39) missense probably benign 0.01
R2022:Prex1 UTSW 2 166,417,534 (GRCm39) missense possibly damaging 0.80
R2091:Prex1 UTSW 2 166,411,285 (GRCm39) missense possibly damaging 0.95
R2258:Prex1 UTSW 2 166,429,077 (GRCm39) missense probably benign 0.00
R2263:Prex1 UTSW 2 166,430,988 (GRCm39) splice site probably benign
R2276:Prex1 UTSW 2 166,419,875 (GRCm39) missense probably benign 0.34
R2279:Prex1 UTSW 2 166,419,875 (GRCm39) missense probably benign 0.34
R2680:Prex1 UTSW 2 166,443,692 (GRCm39) missense possibly damaging 0.92
R3024:Prex1 UTSW 2 166,430,956 (GRCm39) missense probably benign 0.04
R3421:Prex1 UTSW 2 166,459,774 (GRCm39) missense probably damaging 1.00
R3614:Prex1 UTSW 2 166,451,701 (GRCm39) missense probably damaging 1.00
R4244:Prex1 UTSW 2 166,412,256 (GRCm39) missense probably damaging 1.00
R4605:Prex1 UTSW 2 166,555,464 (GRCm39) missense probably benign 0.45
R4685:Prex1 UTSW 2 166,480,252 (GRCm39) missense probably damaging 0.97
R4787:Prex1 UTSW 2 166,480,260 (GRCm39) missense probably benign 0.01
R4796:Prex1 UTSW 2 166,434,211 (GRCm39) missense probably damaging 1.00
R4825:Prex1 UTSW 2 166,427,777 (GRCm39) nonsense probably null
R4955:Prex1 UTSW 2 166,415,143 (GRCm39) missense probably damaging 0.99
R5046:Prex1 UTSW 2 166,414,883 (GRCm39) missense probably benign 0.00
R5095:Prex1 UTSW 2 166,423,841 (GRCm39) missense probably damaging 1.00
R5408:Prex1 UTSW 2 166,417,573 (GRCm39) small insertion probably benign
R5462:Prex1 UTSW 2 166,486,728 (GRCm39) missense probably benign 0.02
R5535:Prex1 UTSW 2 166,422,193 (GRCm39) missense possibly damaging 0.80
R5777:Prex1 UTSW 2 166,428,579 (GRCm39) missense probably damaging 1.00
R5813:Prex1 UTSW 2 166,425,127 (GRCm39) missense probably benign
R5860:Prex1 UTSW 2 166,486,604 (GRCm39) intron probably benign
R5984:Prex1 UTSW 2 166,427,664 (GRCm39) missense probably damaging 1.00
R6009:Prex1 UTSW 2 166,423,904 (GRCm39) missense probably damaging 1.00
R6174:Prex1 UTSW 2 166,414,883 (GRCm39) missense probably benign 0.00
R6345:Prex1 UTSW 2 166,414,880 (GRCm39) missense probably null 0.81
R6897:Prex1 UTSW 2 166,423,913 (GRCm39) missense probably damaging 0.99
R6935:Prex1 UTSW 2 166,441,575 (GRCm39) missense probably damaging 1.00
R7025:Prex1 UTSW 2 166,455,107 (GRCm39) small insertion probably benign
R7037:Prex1 UTSW 2 166,429,100 (GRCm39) missense probably benign 0.05
R7076:Prex1 UTSW 2 166,475,302 (GRCm39) missense probably damaging 0.99
R7181:Prex1 UTSW 2 166,412,291 (GRCm39) missense probably damaging 1.00
R7361:Prex1 UTSW 2 166,555,490 (GRCm39) missense probably benign 0.04
R7381:Prex1 UTSW 2 166,429,047 (GRCm39) missense probably damaging 1.00
R7721:Prex1 UTSW 2 166,419,810 (GRCm39) nonsense probably null
R7763:Prex1 UTSW 2 166,555,629 (GRCm39) missense unknown
R7809:Prex1 UTSW 2 166,415,164 (GRCm39) missense possibly damaging 0.91
R7971:Prex1 UTSW 2 166,423,859 (GRCm39) missense probably damaging 1.00
R7998:Prex1 UTSW 2 166,428,965 (GRCm39) critical splice donor site probably null
R8029:Prex1 UTSW 2 166,417,523 (GRCm39) missense probably benign 0.01
R8193:Prex1 UTSW 2 166,435,780 (GRCm39) missense possibly damaging 0.60
R8352:Prex1 UTSW 2 166,431,493 (GRCm39) missense probably benign 0.05
R8452:Prex1 UTSW 2 166,431,493 (GRCm39) missense probably benign 0.05
R8927:Prex1 UTSW 2 166,426,995 (GRCm39) missense probably damaging 0.97
R8928:Prex1 UTSW 2 166,426,995 (GRCm39) missense probably damaging 0.97
R9021:Prex1 UTSW 2 166,432,429 (GRCm39) missense possibly damaging 0.47
R9070:Prex1 UTSW 2 166,427,707 (GRCm39) missense probably damaging 1.00
R9213:Prex1 UTSW 2 166,417,669 (GRCm39) missense probably damaging 0.99
R9511:Prex1 UTSW 2 166,413,481 (GRCm39) missense probably damaging 1.00
R9514:Prex1 UTSW 2 166,419,896 (GRCm39) missense possibly damaging 0.53
R9529:Prex1 UTSW 2 166,431,518 (GRCm39) missense probably damaging 1.00
X0065:Prex1 UTSW 2 166,428,545 (GRCm39) missense probably benign
Z1176:Prex1 UTSW 2 166,414,890 (GRCm39) nonsense probably null
Z1177:Prex1 UTSW 2 166,434,148 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCAGTGTTACCAAGTTTTCTACCG -3'
(R):5'- CCCTTTGGCACACTGGTTTG -3'

Sequencing Primer
(F):5'- GTGTTACCAAGTTTTCTACCGAAATG -3'
(R):5'- ACACTGGTTTGGCGTGACTCTAC -3'
Posted On 2020-09-15